Thalassemia is a genetic blood disorder that causes hemoglobin and red blood cell counts to fall below normal. The disease is transmitted from parents to children.
This disease is an inherited blood disorder that affects the body’s ability to produce hemoglobin and red blood cells. A person with thalassemia has a minimal number of red blood cells and hemoglobin, and the remaining red blood cells may be tiny. This condition occurs in some people mildly and in others severely, in which case it can be life-threatening. About 100,000 babies are born with severe thalassemia each year. It is more common in the Mediterranean, South Asian, and African breeds. Follow us by introducing the types, symptoms, causes, diagnosis methods, and treatment of thalassemia.
Different types of thalassemia
This disease exists in two main types, alpha and beta, which we will explain in full below:
In alpha thalassemia, hemoglobin does not produce enough alpha protein. This type of thalassemia is common in Africa, the Middle East, India, Southeast Asia, and southern China but is less common in the Mediterranean. In general, there are four types of alpha thalassemia, which are divided into mild to severe. You get two genes from your father and two genes from your mother, and the severity of thalassemia depends on the number of defective or mutated genes. If any of the genes you inherit:
- If a gene is defective: you have no symptoms, but you are considered a carrier of the disease, you can pass thalassemia to your children.
- Two genes are defective: You have mild thalassemia. This condition may also be known as alpha thalassemia minor.
- Three genes are defective: You have hemoglobin H (a type of chronic anemia). The signs and symptoms of thalassemia in this type of disease are moderate to severe, and people with the disease will need regular blood transfusions throughout their lives.
- Four genes are defective: In this condition, you have alpha thalassemia major (the most severe form of alpha thalassemia). This condition can cause fetal hydrops (a severe condition in which fluid builds up in parts of the fetus’ body). Note that an embryo with four defective or mutated genes cannot produce normal hemoglobin and is unlikely to survive even with a blood transfusion.
To make beta-globin chains, you need two globin genes, each of which you receive from your parents. Beta thalassemia occurs if one or both genes are defective. The severity of the disease depends on the number of mutated genes. Here are some common types of beta-thalassemia:
- A defective gene: If it is a defective gene, beta-thalassemia minor develops.
- Two defective genes: In this condition, moderate or severe symptoms may occur. If both genes are mutated or defective, thalassemia major develops.
Beta thalassemia is more common in Mediterranean people and is more prevalent in North Africa, West Asia, and the Maldives.
Symptoms of thalassemia
The symptoms of this disease vary depending on the type. Symptoms do not show up in most babies with beta-thalassemia and some types of alpha thalassemia until six months of age. This condition occurs because babies have another type of hemoglobin called fetal hemoglobin. Normal hemoglobin begins to replace the embryonic type after six months of age, and symptoms may begin. In general, the symptoms of this disease can include the following:
- Jaundice and pale skin
- Drowsiness and fatigue
- Chest pain
- Cold hands and feet
- Shortness of breath
- Leg muscle cramps
- Heart rate
- Decreased appetite and poor nutrition
- Growth retardation
- Dizziness and weakness
- More susceptible to infection
Another symptom of this disease is skeletal deformity due to the body trying to produce more bone marrow.
Since there is no natural way to remove iron from the body, repeated blood transfusions can lead to excessive iron accumulation and lead to a condition called “abnormal iron overload”; Of course, iron may also accumulate through blood transfusions. Too much iron can damage tissues and organs such as the spleen, heart, and liver. Patients with hemoglobin H are more likely to develop gallstones and an enlarged spleen. If the complications of thalassemia are left untreated, it can lead to organ failure.
Causes of thalassemia
The protein hemoglobin carries oxygen to the blood cells, and the bone marrow uses iron from food to make hemoglobin. In people with this disease, the bone marrow does not produce enough healthy hemoglobin or red blood cells. In some cases, this condition leads to a lack of oxygen, resulting in anemia and fatigue. People with mild thalassemia may not need any treatment, But people with severe disease forms should have regular blood transfusions.
Methods of diagnosing thalassemia
Moderate to severe thalassemia is usually diagnosed by the age of 2 years. This disease is often easily diagnosed by a blood test. In the following, we will introduce the methods of diagnosing this disease:
- Complete blood cell count (CBC): This method can check hemoglobin and red blood cells’ level.
- Reticulocyte count: Reticulocytes refer to newly produced and relatively immature red blood cells. Doing so measures the rate at which red blood cells, or reticulocytes, are produced by the bone marrow. Reticulocytes make up between 1 and 2 percent of a healthy person’s red blood cells.
- Iron: A blood iron test helps your doctor determine the cause of anemia, whether this disease or iron deficiency. The cause of thalassemia is not related to iron deficiency.
- Genetic testing: DNA analysis will look for a person with thalassemia or the presence of defective genes.
- Prenatal test: This test, which is done before the baby is born, shows that the fetus has thalassemia and assesses its severity.
- Placental villi sampling (CVS): This test is prescribed for pregnant women in which fetal placenta is sampled. This test is usually done in the 11th week of pregnancy.
- Amniocentesis: In this procedure (usually in the 16th week of pregnancy), a small sample of amniotic fluid is taken for testing. Amniotic fluid is the fluid that surrounds the fetus.
Thalassemia treatment methods
Treatment of this disease depends on its type and severity. Here are some ways to treat thalassemia:
Blood transfusion: Blood transfusion can increase the level of hemoglobin and red blood cells. Patients with this disease major need eight to twelve injections a year. Those with milder thalassemia need eight injections each year, which may increase during times of stress, illness, or infection.
Iron chelate: This method involves removing excess iron from the bloodstream. Blood transfusions can sometimes cause iron overload, damaging the heart and other parts of the body. Deferoxamine may be prescribed to treat these patients; It can be injected both subcutaneously and orally.
Patients undergoing blood and chelate transfusions may need folic acid supplements; Because taking this drug helps the growth of red blood cells.
Bone marrow or stem cell transplant: Bone marrow cells produce red and white blood cells, hemoglobin, and platelets; For this reason, in severe cases, a transplant from a compatible donor may be an effective treatment.
Surgery: This procedure may be needed to correct bone abnormalities.
Gene therapy: Scientists are studying different genetic methods for treating thalassemia; However, this method appears to involve inserting a natural beta-globin gene into a patient’s bone marrow or using a drug to reactivate fetal hemoglobin-producing genes.
Complications of thalassemia
People with this disease can have several complications, which we will mention below:
This condition may be due to repeated blood transfusions or the disease itself. Excess iron in the blood increases the risk of hepatitis, fibrosis, and cirrhosis. Too much iron in the blood interferes with the pituitary gland’s function. It may cause problems in the child’s puberty and development, leading to diabetes and hypothyroidism or hyperthyroidism. Excess iron in the blood will also increase the risk of arrhythmias and congestive heart failure.
Sometimes a person’s immune system reacts to new blood during a blood transfusion and tries to destroy it. Prevent this type of problem; blood types must match exactly.
The spleen restores red blood cells, and because the shape of red blood cells in people with thalassemia may be abnormal, it is more difficult for the spleen to recover. The cells in the spleen shrink and grow. Enlargement of the spleen can continue for too long, destroying the healthy blood cells that the patient receives during the injection. Sometimes the patient may need spleen surgery or splenectomy; Of course, this is less common; Removing the spleen can have other side effects.
Spleen removal increases the risk of infection, and regular injections increase the risk of blood-borne disease.
In some cases, the bone marrow disintegrates, deforming the surrounding bones, especially the skull and face. Under these conditions, the bone can become brittle and increase the risk of fracture.
Living with thalassemia
People with this disease may need regular medical care to control the disease, depending on the disease type effectively. A doctor should always monitor people who need to have frequent blood transfusions. People with thalassemia are advised to follow a healthy diet and include exercise in their daily routine. Prevent excessive iron accumulation; it may be necessary to avoid certain foods such as spinach or fortified cereals. Patients should discuss their diet and exercise with their doctor. The Centers for Disease Control and Prevention (CDC) urges people with this disease to vaccinate on time to prevent complications. This is especially important for those who have a blood transfusion; Because they have a higher risk of getting hepatitis A or B.
Thalassemia and pregnancy
People with this disease should seek genetic counseling when trying to conceive; Especially if both men and women have thalassemia. During pregnancy, a woman with this disease may be at higher risk for cardiomyopathy and diabetes; There may also be fetal growth restriction. A cardiologist should examine the mother before and during pregnancy to minimize the problems caused by this disease in her pregnancy; Especially if he has beta-thalassemia minor. Continuous monitoring of the fetus may be recommended during pregnancy.
Thalassemia is inherited or genetic anemia in which the number of hemoglobin and red blood cells in a person with the disease is lower than usual. This disease is present in two types, alpha, and beta, and its symptoms will vary according to the severity of the disease. People with mild thalassemia can often live without any problems; But in severe this disease, there is a risk of heart disease, liver disease, bone deformity, and endocrine problems. For treatment, the doctor first carefully examines the disease’s condition and offers appropriate treatment to increase the patient’s life expectancy.